Linked Data
ClinVar Variation Id:
15437
ClinVar RCV Id:
RCV000016695
RCV000169505
RCV000507580
RCV001004349
RCV002482875
RCV002444432
RCV004532369
dbSNP Id:
rs33971440
ExAC:
11:5248159 C / A
gnomAD v2:
11-5248159-C-A
gnomAD v3:
11-5226929-C-A
gnomAD v4:
11-5226929-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226929C>A , CM000673.2:g.5226929C>A | GRCh38 |
| NC_000011.9:g.5248159C>A , CM000673.1:g.5248159C>A | GRCh37 |
| NC_000011.8:g.5204735C>A | NCBI36 |
| NG_000007.3:g.70687G>T | |
| NG_059281.1:g.5143G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.92+1G>T | ENSP00000494175.1:n.92+1G>T | |
| ENST00000335295.4:c.92+1G>T MANE Select | ENSP00000333994.3:n.92+1G>T | |
| ENST00000380315.2:c.92+1G>T | ENSP00000369671.2:n.92+1G>T | |
| ENST00000485743.1:n.143+1G>T | ||
| ENST00000633227.1:c.76+17G>T | ENSP00000488004.1:n.76+17G>T | |
| NM_000518.4:c.92+1G>T | NP_000509.1:n.92+1G>T | |
| NM_000518.5:c.92+1G>T MANE Select | NP_000509.1:n.92+1G>T |